PMC Articles for MedGen (Select 332439) - PMC

Result Filters

Links from MedGen

Items: 10

Select item 85680511.

Influence of Molecular Classes and Growth Hormone Treatment on Growth and Dysmorphology in Prader-Willi Syndrome: A Multicenter Study

Ranim Mahmoud, Anna Leonenko, Merlin G. Butler, Pamela Flodman, June-Anne Gold, Jennifer L. Miller, Elizabeth Roof, Elisabeth Dykens, Daniel J. Driscoll, Virginia Kimonis

Clin Genet. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Clin Genet. 2021 Jul; 100(1): 29–39. Published online 2021 Mar 13. doi: 10.1111/cge.13947

PMCID:: PMC8568051

Abstract Article PDF–167K

Select item 30653132.

A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome

Enver Şimşek, Tülay Şimşek, Yıldız Dallar, Önder Can, Patrick J Willems

J Clin Res Pediatr Endocrinol. 2011 Mar; 3(1): 29–31. Published online 2011 Feb 23. doi: 10.4274/jcrpe.v3i1.06

PMCID:: PMC3065313

Abstract Article PDF–307K

Select item 25980463.

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15‐16.1

E Rajcan‐Separovic, C Harvard, X Liu, B McGillivray, J G Hall, Y Qiao, J Hurlburt, J Hildebrand, E C R Mickelson, J J A Holden, M E S Lewis

J Med Genet. 2007 Apr; 44(4): 269–276. Published online 2006 Sep 8. doi: 10.1136/jmg.2006.045013

PMCID:: PMC2598046

Abstract Article PDF–1.5M

Select item 17629444.

Duplication of segment 1p21 following paternal insertional translocation, ins(6;1)(q25;p13.3p22.1)

A. Utkus, I. Sorokina, V. Kucinskas, B. Rothlisberger, D. Balmer, L. Brecevic, A. Schinzel

J Med Genet. 1999 Jan; 36(1): 73–76.

PMCID:: PMC1762944

Summary PDF–104K

Select item 10510695.

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

A Mégarbané, N Souraty, M Prieur, D Theophile, P Chédid, J Augé, M Vekemans

J Med Genet. 1997 Sep; 34(9): 783–786. doi: 10.1136/jmg.34.9.783

PMCID:: PMC1051069

Summary Page Browse PDF–972K

Select item 10487396.

Ring chromosome 14: a distinct clinical entity.

R Schmidt, L Eviatar, H M Nitowsky, M Wong, S Miranda

J Med Genet. 1981 Aug; 18(4): 304–307. doi: 10.1136/jmg.18.4.304

PMCID:: PMC1048739

Summary Page Browse PDF–713K

Select item 90907247.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

Miriam S. Reuter, Michael Zech, Maja Hempel, Janine Altmüller, Tracy Heung, Laura Pölsler, René Santer, Holger Thiele, Brett Trost, Christian Kubisch, Stephen W. Scherer, Sabine Rudnik-Schöneborn, Anne S. Bassett, Davor Lessel

Eur J Hum Genet. 2022 May; 30(5): 611–618. Published online 2022 Mar 18. doi: 10.1038/s41431-022-01077-y